Title |
New microdeletion and microduplication syndromes: a comprehensive review
|
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Published in |
Genetics and Molecular Biology, May 2014
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DOI | 10.1590/s1415-47572014000200007 |
Pubmed ID | |
Authors |
Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina |
Abstract |
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Ireland | 2 | 29% |
Belgium | 1 | 14% |
Spain | 1 | 14% |
United Kingdom | 1 | 14% |
Unknown | 2 | 29% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 86% |
Scientists | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Italy | 2 | 1% |
Spain | 1 | <1% |
Netherlands | 1 | <1% |
Hungary | 1 | <1% |
Unknown | 130 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 21 | 16% |
Student > Master | 19 | 14% |
Other | 17 | 13% |
Student > Ph. D. Student | 16 | 12% |
Student > Bachelor | 12 | 9% |
Other | 27 | 20% |
Unknown | 23 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 32 | 24% |
Biochemistry, Genetics and Molecular Biology | 32 | 24% |
Agricultural and Biological Sciences | 28 | 21% |
Computer Science | 5 | 4% |
Neuroscience | 4 | 3% |
Other | 9 | 7% |
Unknown | 25 | 19% |